Canonical Allele Identifier: CA631317923
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3013960
ClinVar RCV Id: RCV003873535
dbSNP Id: rs1568399074
gnomAD v2: 19-7592533-A-C
gnomAD v4: 19-7527647-A-C
MyVariant Identifiers: chr19:g.7592533_7592534delinsCG (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527647A>C , CM000681.2:g.7527647A>C GRCh38
NC_000019.9:g.7592533A>C , CM000681.1:g.7592533A>C GRCh37
NC_000019.8:g.7498533A>C NCBI36
NG_015806.1:g.10038A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.680+19A>C MANE Select ENSP00000264079.5:n.680+19A>C
ENST00000264079.10:c.680+19A>C ENSP00000264079.5:n.680+19A>C
ENST00000394321.9:n.779A>C
ENST00000598406.1:n.520A>C
ENST00000601003.1:c.572-217A>C ENSP00000469074.1:n.572-217A>C
NM_020533.2:c.680+19A>C NP_065394.1:n.680+19A>C
NM_020533.3:c.680+19A>C MANE Select NP_065394.1:n.680+19A>C
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